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伴有感音神经性耳聋的产前巴特综合征

Antenatal Bartter's syndrome with sensorineural deafness.

作者信息

Bhamkar R P, Gajendragadkar A

机构信息

Department of Pediatrics, Gurunanak Hospital, Bandra (E), Mumbai, India.

出版信息

Indian J Nephrol. 2009 Jan;19(1):23-6. doi: 10.4103/0971-4065.50677.

DOI:10.4103/0971-4065.50677
PMID:20352008
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2845190/
Abstract

Bartter's syndrome is a group of inherited, salt-losing tubulopathies presenting as metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. We report here the first case of a neonate with bilateral, sensorineural deafness, a variant of antenatal Bartter's syndrome from an Indian community.

摘要

巴特综合征是一组遗传性失盐性肾小管病,表现为代谢性碱中毒伴正常血压性高肾素血症和醛固酮增多症。我们在此报告首例来自印度社区的双侧感音神经性耳聋新生儿病例,这是产前巴特综合征的一种变体。

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1
Antenatal Bartter's syndrome with sensorineural deafness.伴有感音神经性耳聋的产前巴特综合征
Indian J Nephrol. 2009 Jan;19(1):23-6. doi: 10.4103/0971-4065.50677.
2
Neo-Mull-Soy metabolic alkalosis: a model of Bartter's syndrome?新型低血钾、低氯性代谢性碱中毒:巴特综合征模型?
Pediatrics. 1980 Nov;66(5):784-6.
3
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Nephron Physiol. 2004;96(3):p65-78. doi: 10.1159/000076752.
4
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A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter's syndrome with 4 years follow-up.一例中国早产儿新生儿伴短暂产前 Bartter 综合征的新型 MAGED2 变异,随访 4 年。
BMC Nephrol. 2021 Dec 11;22(1):408. doi: 10.1186/s12882-021-02553-1.
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A Case of Bartter's Syndrome Presenting in Adulthood.成人期巴特综合征 1 例报告。
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A variant of Bartter's syndrome. Bartter's syndrome associated with hydramnios, prematurity, hypercalciuria and nephrocalcinosis.巴特综合征的一种变异型。与羊水过多、早产、高钙尿症和肾钙质沉着症相关的巴特综合征。
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Childhood Bartter's syndrome: An Indian case series.儿童巴特综合征:一组印度病例
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本文引用的文献

1
Bartter's and Gitelman's syndromes: their relationship to the actions of loop and thiazide diuretics.巴特综合征和吉特曼综合征:它们与袢利尿剂和噻嗪类利尿剂作用的关系。
Curr Opin Pharmacol. 2006 Apr;6(2):208-13. doi: 10.1016/j.coph.2006.01.002. Epub 2006 Feb 20.
2
Salt wasting and deafness resulting from mutations in two chloride channels.两个氯离子通道突变导致的盐耗竭和耳聋。
N Engl J Med. 2004 Mar 25;350(13):1314-9. doi: 10.1056/NEJMoa032843.
3
Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome.伴有醛固酮增多症和低钾性碱中毒的肾小球旁复合体增生。一种新综合征。
Am J Med. 1962 Dec;33:811-28. doi: 10.1016/0002-9343(62)90214-0.
4
Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.低钾性失盐性肾小管病基因明确患者的临床表现。
Am J Med. 2002 Feb 15;112(3):183-90. doi: 10.1016/s0002-9343(01)01086-5.
5
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.Barttin是一种氯离子通道β亚基,对肾脏氯离子重吸收和内耳钾离子分泌至关重要。
Nature. 2001 Nov 29;414(6863):558-61. doi: 10.1038/35107099.
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Bartter syndrome: an overview.巴特综合征概述
QJM. 2000 Apr;93(4):207-15. doi: 10.1093/qjmed/93.4.207.
7
Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.羊膜细胞基因诊断后高前列腺素E综合征的产前和产后管理。
Pediatrics. 1999 Mar;103(3):678-83. doi: 10.1542/peds.103.3.678.
8
Bartter syndrome in Costa Rica: a description of 20 cases.
Pediatr Nephrol. 1997 Jun;11(3):296-301. doi: 10.1007/s004670050280.
9
Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes.编码内向整流性肾钾通道(ROMK)的基因突变导致巴特综合征的产前变异型:遗传异质性的证据。巴特样综合征国际协作研究组。
Hum Mol Genet. 1997 Jan;6(1):17-26. doi: 10.1093/hmg/6.1.17.
10
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.巴特综合征,即伴有高钙尿症的低钾性碱中毒,由钠-钾-2氯协同转运蛋白NKCC2的突变引起。
Nat Genet. 1996 Jun;13(2):183-8. doi: 10.1038/ng0696-183.